| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6192delG | p.Lys2064AsnfsX24 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | del1c | Fs. | Stop at 2087 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#06 | C-Term MMPs site | No |
| At the mRNA level | On restriction map |
| No mechanism suspected | New restriction site(s): Mae II Lost restriction site(s): Aha II, BspW I, BspW I, Taq I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ITA02PAV F0065 I01 | Proband | NA | NA | ITALIA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 125 | 16222657 | Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E, Marziliano N, Pisani A, Lanzarini L, Mannarino S, Larizza D, Mosconi M, Antoniazzi E, Zoia MC, Meloni G, Magrassi L, Brega A, Bedeschi MF, Torrente I, Mari F, Tavazzi L. "Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies". Hum Mutat. 2005 Nov;26(5):494. |